ClinVar Miner

Variants in gene GJB2

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
173 163 199 161 45 1 27 558

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
not provided 134 84 88 133 25 1 0 413
Autosomal recessive nonsyndromic hearing loss 1A 81 75 107 24 20 0 14 250
Autosomal dominant nonsyndromic hearing loss 3A 25 23 30 19 20 0 13 111
not specified 7 3 62 34 17 0 0 110
Nonsyndromic genetic hearing loss 35 13 16 4 5 0 0 72
Ichthyosis, hystrix-like, with hearing loss 2 0 27 13 26 0 0 67
Rare genetic deafness 42 20 0 0 0 0 0 62
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher 33 4 14 6 3 0 0 60
Hearing loss 30 2 4 1 0 0 0 37
Hearing impairment 27 6 1 0 0 0 0 30
GJB2-related condition 13 4 1 5 2 0 0 25
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B 14 2 0 0 0 0 0 16
Inborn genetic diseases 6 1 2 0 0 0 0 9
Mutilating keratoderma 7 0 1 0 1 0 0 9
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 5 2 1 0 0 0 0 8
Hearing loss, autosomal recessive 1 8 0 0 0 0 0 8
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 6 1 0 0 0 0 0 7
Palmoplantar keratoderma-deafness syndrome 7 0 0 0 0 0 0 7
Nonsyndromic Deafness 4 0 2 0 0 0 0 6
nonsyndromic sensorineural hearing loss 4 1 0 0 1 0 0 6
GJB2-Related Disorders 3 1 0 0 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 3A 1 0 1 0 1 0 0 3
Deafness 3 0 0 0 0 0 0 3
Ear malformation 3 0 0 0 0 0 0 3
Knuckle pads, deafness AND leukonychia syndrome 3 0 0 0 0 0 0 3
Nonsyndromic Hearing Loss, Recessive 0 0 1 0 1 0 1 3
See cases 3 0 0 0 0 0 0 3
Sensorineural hearing loss disorder 1 1 1 0 0 0 0 3
Autism spectrum disorder 2 0 0 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 104 2 0 0 0 0 0 0 2
Hereditary palmoplantar keratoderma; Nonsyndromic genetic hearing loss 2 0 0 0 0 0 0 2
Keratitis ichthyosis and deafness syndrome 0 0 1 0 1 0 0 2
Nonsyndromic Hearing Loss, Dominant 0 0 1 0 1 0 0 2
Progressive sensorineural hearing impairment 1 0 1 0 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 1 0 0 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A 0 0 0 0 0 0 1 1
Bilateral sensorineural hearing impairment 1 0 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB3 1 0 0 0 0 0 0 1
Deafness, digenic, GJB2/GJB6 1 0 0 0 0 0 0 1
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss 1 0 0 0 0 0 0 1
Hearing impairment; Bilateral conductive hearing impairment 1 0 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment 1 0 0 0 0 0 0 1
IFAP syndrome 1, with or without BRESHECK syndrome 1 0 0 0 0 0 0 1
Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome 1 0 0 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 1 0 0 0 0 0 1
Severe sensorineural hearing impairment 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 120 51 30 122 9 1 0 333
GeneDx 62 23 37 13 22 0 0 157
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 53 11 51 16 12 0 0 143
Counsyl 20 54 44 1 0 0 0 119
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 42 20 22 20 13 0 0 117
Natera, Inc. 48 6 31 10 8 0 0 103
Athena Diagnostics Inc 38 5 26 4 7 0 0 80
Illumina Laboratory Services, Illumina 10 4 34 22 28 0 0 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 32 7 5 10 9 0 0 63
Fulgent Genetics, Fulgent Genetics 33 4 14 6 3 0 0 60
Eurofins Ntd Llc (ga) 29 3 13 3 10 0 0 58
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 24 4 13 2 5 0 0 48
INGEBI, INGEBI / CONICET 25 4 9 4 5 0 0 47
OMIM 42 0 0 0 0 0 0 42
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 30 2 4 1 0 0 0 37
Genetic Services Laboratory, University of Chicago 29 0 2 0 5 0 0 36
PreventionGenetics, part of Exact Sciences 14 4 1 7 9 0 0 35
CeGaT Center for Human Genetics Tuebingen 21 2 4 3 0 0 0 30
Revvity Omics, Revvity 22 3 4 0 0 0 0 29
GeneReviews 2 0 0 0 0 0 26 28
ClinGen Hearing Loss Variant Curation Expert Panel 8 7 9 0 0 0 0 24
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 10 1 3 4 5 0 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 10 1 2 4 5 0 0 22
Myriad Genetics, Inc. 15 1 6 0 0 0 0 22
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 16 4 1 0 0 0 0 21
Baylor Genetics 15 2 4 0 0 0 0 20
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 10 2 3 0 1 0 0 16
Knight Diagnostic Laboratories, Oregon Health and Sciences University 13 2 0 0 0 0 0 14
Mendelics 8 0 1 0 4 0 0 13
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 9 3 0 2 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 1 1 0 0 0 0 11
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 7 3 1 0 0 0 0 11
3billion 8 2 0 0 0 0 0 10
Ambry Genetics 6 1 2 0 0 0 0 9
MGZ Medical Genetics Center 9 0 0 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 7 1 1 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 1 1 2 1 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 8 0 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 1 0 0 0 0 0 8
Genome-Nilou Lab 4 1 3 0 0 0 0 8
Pars Genome Lab 0 1 0 3 5 0 0 8
Clinical Genetics and Genomics, Karolinska University Hospital 6 1 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 5 0 1 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 1 0 0 0 0 0 6
DASA 5 1 0 0 0 0 0 6
Division of Human Genetics, Children's Hospital of Philadelphia 5 0 0 0 0 0 0 5
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 1 1 1 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 1 0 0 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 0 0 1 0 0 4
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 2 0 1 0 0 0 4
Institut Pasteur du Maroc 4 0 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 0 4
Lifecell International Pvt. Ltd 3 1 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 0 0 0 0 0 0 4
King Laboratory, University of Washington 3 0 0 0 0 0 0 3
Center for Statistical Genetics, Columbia University 3 0 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 3 0 0 0 0 0 0 3
New York Genome Center 2 0 1 0 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 0 0 0 0 0 3
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 1 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 2
Neurogenetic Laboratory, Second Faculty of Medicine, Charles University 0 0 2 0 0 0 0 2
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 1 0 0 0 0 0 2
Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco 2 0 0 0 0 0 0 2
UAEU Genomics Laboratory, United Arab Emirates University 2 0 0 0 0 0 0 2
Gene Friend Way, National Innovation Center 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut 1 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 1 0 0 0 0 0 0 1
Deafness research group, Biosystems & Integrative Sciences Institute, University of Lisbon 0 0 1 0 0 0 0 1
Dr. Faghihi's Medical Genetic Center 1 0 0 0 0 0 0 1
Medical Genetics, University of Parma 1 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 0 1
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 0 1
Laboratoire de Genetique Biologique, CHU de Poitiers 0 1 0 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Uitto Lab, Thomas Jefferson University 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 1
Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics 0 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 1
Molecular Genetics laboratory, Necker Hospital 1 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 1

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